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Description:
May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the cytoplasm. Triggers the caspase-independent apoptosis by altering mitochondrial membrane permeabilization (MMP) resulting in the release of PDCD8.
Description:
Clefts of the oral-facial region usually occur in early fetal development and can affect the lip, the soft palate and the hard palate. Cleft lip (with or without cleft palate) is a genetically complex birth defect that occurs in approximately one in every 750-1,000 live births. This is one of the most common birth defects and is multifactorial, with both genetic and environmental causes. Cleft lip- and palate-associated transmembrane protein 1 (CLPTM1) belongs to a family of cleft lip and palate transmembrane proteins. This family also contains cisplatin resistance-related protein (CRR9), which is involved in CDDP-induced apoptosis. CLPTM1L (cleft lip and palate transmembrane protein 1-like protein), also known as CRR9p (cisplatin resistance-related protein 9) is a 538 amino acid multi-pass membrane protein that belongs to the CLPTM1 family and, when overexpressed, enhances cisplatin-mediated apoptosis. CLPTM1L exists as two alternatively spliced isoforms encoded by a gene that maps to human chromosome 5p15.33.
Description:
his gene encodes an enzyme that belongs to theaci-reductone dioxygenase family of metal-binding enzymes, whichare involved in methionine salvage. This enzyme may regulate mRNAprocessing in the nucleus, and may carry out different functionsdepending on its localization. Related pseudogenes have beendefined on chromosomes 8 and 20.
Description:
Members of the ligand-gated ion channel receptor family are characterized by their fast transmitting response to neurotransmitters. Two important members of this family are the nicotinic acetylcholine and glutamate receptors, both of which are composed of five homologous subunits forming a transmembrane aqueous pore. These transmembrane receptors change conformation in response to their cognate neurotransmitter. Nicotinic acetylcholine receptors (AChRs) are found at the postsynaptic membrane of the neuromuscular junction and bind acetylcholine molecules, allowing ions to move through the pore. Glutamate receptors are found in the postsynaptic membrane of cells in the central nervous system. The activity that is generated at the synapse by the binding of acetylcholine is terminated by acetylcholinesterase, an enzyme that rapidly hydrolyzes acetylcholine. AChR?, also known as LNCR2, PAOD2, NACHRA3 or CHRNA3, is a 505 amino acid multi-pass membrane protein that belongs to the ligand-gated ion channel receptor family and may play a role in neurotransmission.
Description:
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. Transcript variants utilizing alternative polyA signals exist.
Description:
Cyclin dependent kinase 5 (Cdk5) is a key regulator of cell cycle progression in neuronal differentiation that physically associates with and is activated by the neuron-specific protein p35. CDK5RAP1 (Cdk5 regulatory subunit-associated protein 1), also known as Cdk5 activator-binding protein C42, is a 601 amino acid protein that specifically inhibits Cdk5 activation by p35 through formation of a dimer that inhibits kinase activity. CDK5RAP1 contains one TRAM domain, which is thought to bind tRNA and deliver the RNA-modifying enzymatic domain to its target. There are 4 named isoforms of CDK5RAP1 that are produced as a result of alternative splicing events and are expressed at high levels in heart and skeletal muscle.
Description:
Rb is a tumor suppressor gene which functions as a negative regulator of the cell cycle by interacting with transcription factors including E2F1, PU1, ATF2, UBF, Elf1 and cAbl. This ability of Rb to alter transcription is regulated by phosphorylation catalyzed by the cyclin dependent protein kinases (cdks). Rb is phosphorylated on serine and threonine, but not on tyrosine residues. It forms a complex with SV40 large T antigen, adenovirus E1A, and human papilloma virus 16E. Rb protein may act by regulating transcription and loss of its function leads to uncontrolled cell growth. Aberrations in the Rb gene have been implicated in cancers of breast, colon, prostate, kidney, nasopharynx, and leukemia.
Description:
FADD (Fas Associated Death Domain) is an apoptosis adapter molecule enabling transduction of the apoptosis signal initiated via the FasL/Fas receptor interaction. The protein contains a C terminal death domain that interacts with the Fas receptor death domain. The N terminus contains a death effectors domain (DED) which recruits caspase to the death inducing signaling complex (DISC) and initiates the apoptotic caspase cascade. Recruitment of Caspase 8 to the Fas receptor results in oligomerization of the Caspase 8 protein, which in turn drives its autoactivation through self-cleavage. Activated Caspase 8 then activates other downstream caspases including Caspase 9, thereby commiting the cell to undergo apoptosis. FADD is implicated in non-apoptotic cellular pathways such as the regulation of cell cycle machinery in T lymphocytes. This is connected to the phosphorylation state of FADD and to the FasL/TRAIL induced transcriptional activation of cfos protooncogene. FADD also interacts with the hepatitis C virus core protein in the HEK 293 cell line.
Description:
Belonging to the F-box family of proteins, FBXO35 (F-box only protein 35), also designated F-box and WD-40 domain-containing protein 12 (FBXW12 or FBXO12), is a 464 amino acid protein that contains one C-terminal F-box domain. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein)-type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. They are members of a larger family of proteins that are involved in the regulation of a wide variety of cellular mechanisms, including the cell cycle, the immune response, signaling cascades and developmental processes. They function by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, I˚B-å and ∫-catenin, for degradation by the proteasome after ubiquitination. Via its F-box domain, FBXO35 can directly interact with Skp1 p19 and CUL-1. FBXO35 is ubiquitously expressed at low levels in most human tissues.
Description:
This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013].
Description:
G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase activating protein that functions to down regulate Galpha i/Galpha q linked signaling.
Description:
HIGD1A (HIG1 domain family member 1A), also known as HIG1 (hypoxia-inducible gene 1 protein) or HSPC010, is a 93 amino acid multi-pass membrane protein that contains one HIG1 domain. Existing as two alternatively spliced isoforms, the gene encoding HIGD1A maps to human chromosome 3, which contains approximately 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.
Description:
Rsk1 is a member of a family of 90kDa ribosomal protein S6 kinases, which includes Rsk1, Rsk2 and Rsk3. These are broadly expressed serine/threonine protein kinases activated in response to mitogenic stimuli, including extracellular signal regulated protein kinases Erk1 and Erk2. Rsk1 is activated by MAPK in vitro and in vivo via phosphorylation. Active Rsks appear to play a major role in transcriptional regulation by translocating to the nucleus and phosphorylating c Fos and CREB.
UOM:
1 * 100 µl
Promotion
,BOSSBS-5680REA
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